Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
2.
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
Mov Disord
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509638
3.
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Brain
; 146(3): 1093-1102, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472722
4.
Deep learning-accelerated image reconstruction in back pain-MRI imaging: reduction of acquisition time and improvement of image quality.
Radiol Med
; 129(3): 478-487, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38349416
5.
First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual.
Eur J Neurol
; 30(9): 2854-2858, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271829
6.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
7.
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Mol Genet Metab
; 137(3): 273-282, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240581
8.
Digital Gait Biomarkers Allow to Capture 1-Year Longitudinal Change in Spinocerebellar Ataxia Type 3.
Mov Disord
; 37(11): 2295-2301, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36043376
9.
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.
Mov Disord
; 37(2): 405-410, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713931
10.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Brain
; 144(2): 574-583, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459760
11.
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.
J Lipid Res
; 62: 100078, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891937
12.
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.
Mov Disord
; 36(11): 2675-2681, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34397117
13.
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Mov Disord
; 36(10): 2273-2281, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951232
14.
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Genet Med
; 21(11): 2521-2531, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31092906
15.
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Mov Disord
; 34(8): 1220-1227, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211461
16.
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Am J Med Genet A
; 179(7): 1338-1345, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31102500
17.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J Inherit Metab Dis
; 42(2): 264-275, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689204
18.
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Mol Genet Metab
; 138(3): 107372, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739646
19.
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort.
Mov Disord
; 38(8): 1557-1558, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528564
20.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997